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1 ume likely reflects a specific developmental craniofacial abnormality.
2 l crest cell (NCC) development explains RCPS craniofacial abnormalities.
3  was sufficient to create severe cardiac and craniofacial abnormalities.
4 d by multiple congenital anomalies including craniofacial abnormalities.
5   Mutations in many cilia proteins result in craniofacial abnormalities.
6 r gene develop pigmentary defects and severe craniofacial abnormalities.
7 yndrome, which is characterised, in part, by craniofacial abnormalities.
8 rome, which is characterized by skeletal and craniofacial abnormalities.
9 lly presenting with both cardiac disease and craniofacial abnormalities.
10 ariety of congenital birth defects including craniofacial abnormalities.
11  to tooth misalignment, bone remodeling, and craniofacial abnormalities.
12 0p13-p14 that is associated with cardiac and craniofacial abnormalities.
13 the neural field followed by neural tube and craniofacial abnormalities.
14 defective melanocyte function, deafness, and craniofacial abnormalities.
15 road and bowed long bones, narrow thorax and craniofacial abnormalities.
16 TCH-22 syndrome with aortic arch defects and craniofacial abnormalities.
17  function mutations which cause skeletal and craniofacial abnormalities.
18 tations in FGFR associated with skeletal and craniofacial abnormalities.
19  limited survival, as well as hypodontia and craniofacial abnormalities.
20 the superenhancer in humans both with severe craniofacial abnormalities.
21  patients with poor glasses adherence due to craniofacial abnormalities.
22 rtality, tissue specific growth defects, and craniofacial abnormalities.
23 ntation changes, and NPVF which is linked to craniofacial abnormalities.
24                                              Craniofacial abnormalities account for about one-third o
25                                              Craniofacial abnormalities account for approximately one
26    Among 20 patients aged 1 to 17 years with craniofacial abnormalities, all achieved a successful fi
27                                              Craniofacial abnormalities also occur in a number of hum
28 ex chromosomal translocations: The first had craniofacial abnormalities and an apparently balanced t(
29 c developmental defects, including dwarfism, craniofacial abnormalities and brachymesophalangy, pheno
30 der(22) syndrome include mental retardation, craniofacial abnormalities and congenital heart defects.
31 , immunodeficient, and displayed spontaneous craniofacial abnormalities and delayed lymphomagenesis c
32 he two primary features of Keipert syndrome: craniofacial abnormalities and digital abnormalities.
33 to (BO) syndrome, which are characterized by craniofacial abnormalities and hearing loss with (BOR) o
34  recessive disorder with growth retardation, craniofacial abnormalities and limb reduction.
35 t, and suppression of the latter led to both craniofacial abnormalities and neuronal apoptosis.
36                                         Both craniofacial abnormalities and obesity have been observe
37 ntain the gene(s), most likely Rai1, causing craniofacial abnormalities and obesity.
38 t the P53-pathway can be targeted to prevent craniofacial abnormalities and shows a previously unknow
39  in neural crest cells, rescued the profound craniofacial abnormalities and spina bifida observed in
40    We hypothesized that DS mice recapitulate craniofacial abnormalities and upper airway obstruction
41 mbryonic development, including lymphopenia, craniofacial abnormalities, and cardiac defects, similar
42  its growth, is a common (1 in 2,500 births) craniofacial abnormality, approximately 20% of which occ
43                                              Craniofacial abnormalities are one of the most common bi
44 ical features, including cardiac defects and craniofacial abnormalities associated with 2q13 deletion
45 cific molecular pathogenesis of the limb and craniofacial abnormalities associated with Apert syndrom
46 ion of neural crest cells while rescuing the craniofacial abnormalities associated with mutations in
47                       DGS/VCFS patients have craniofacial abnormalities, cardiac outflow defects and
48 milies in which variable degrees of limb and craniofacial abnormalities, detected by fetal ultrasound
49 nial neural crest cells that would result in craniofacial abnormalities during development.
50 he forebrain, including the eyes, as well as craniofacial abnormalities, further demonstrating the pa
51 ed with variable clinical features including craniofacial abnormalities, hypogenitalism and diaphragm
52           In this study, we investigated the craniofacial abnormalities in a mouse model for Keutel s
53 ely characterize the upper airway as well as craniofacial abnormalities in Dp(16)1Yey (Dp16) mice.
54 s that BARX2 may be causally involved in the craniofacial abnormalities in Jacobsen syndrome.
55 aploinsufficiency of Rai1 causes obesity and craniofacial abnormalities in mice.
56 l subjects; (4) although there were no major craniofacial abnormalities in most of the adolescents wi
57 ypothesized that we could improve DS-related craniofacial abnormalities in mouse models using a Dyrk1
58 types such as the accompanying syndactyly or craniofacial abnormalities in the majority of affected i
59 gated whether the disruption of zfhx4 causes craniofacial abnormalities in zebrafish.
60                   Tooth agenesis is a common craniofacial abnormality in humans and represents failur
61 ss of THAP11 in zebrafish embryos results in craniofacial abnormalities including the complete loss o
62 ) and Ets1(+/-)Fli1(+/-) mice also displayed craniofacial abnormalities, including a small middle ear
63 platelet-derived growth factor (Pdgf) causes craniofacial abnormalities, including cleft palate.
64  mice as a model system that exhibits severe craniofacial abnormalities, including cleft secondary pa
65  in neural crest demonstrate fully penetrant craniofacial abnormalities, including microcephaly, clef
66 n determining the penetrance and severity of craniofacial abnormalities, including microtia and facia
67                   Opa3(L122P) mice displayed craniofacial abnormalities, including undergrowth of the
68 iatric patients with congenital and acquired craniofacial abnormalities is difficult; consequently, t
69                                              Craniofacial abnormality is one of the major clinical ma
70 n, where polysyndactyly, in combination with craniofacial abnormalities, is also part of a common gen
71 S phenotypes by identifying uncharacteristic craniofacial abnormalities not found in individuals with
72 h syndrome delineation and diagnosis because craniofacial abnormalities occur in 30% of characterized
73 ls are underweight and do not have seizures, craniofacial abnormalities, or reduced fertility.
74  hedgehog (Shh) signaling results in similar craniofacial abnormalities prompted us to examine whethe
75 ng degrees of goniodysgenesis and ocular and craniofacial abnormalities, recapitulating some of the f
76 ized by intellectual disability and distinct craniofacial abnormalities resulting from a de novo p.R2
77 enic to the SMS common deletion, and exhibit craniofacial abnormalities, seizures and marked obesity,
78                      Df(11)17/+ mice exhibit craniofacial abnormalities, seizures, marked obesity, an
79 cluding retinal degeneration, brachydactyly, craniofacial abnormalities, short stature, and neurologi
80 d results in impaired thymic development and craniofacial abnormalities similar to the group of clini
81 yos ( approximately 50%) have short stature, craniofacial abnormalities similar to those in Noonan sy
82 pes, including gastrulation defects, complex craniofacial abnormalities such as cyclopia, and defects
83 Mice lacking a functional Rspo2 gene exhibit craniofacial abnormalities such as mandibular hypoplasia
84 al growth delay with reduced body weight and craniofacial abnormalities such as small mandible.
85 collagen receptor, are associated with human craniofacial abnormalities, such as midface hypoplasia a
86                   The specific nature of the craniofacial abnormalities suggests that crude oil may t
87 icient mice have pituitary dysmorphology and craniofacial abnormalities that include defects in the s
88                  In this paper genes causing craniofacial abnormalities, that have either been mapped
89 , we have traced the origin of DS-associated craniofacial abnormalities to deficiencies in neural cre
90                 Further, the hcfc1b-mediated craniofacial abnormalities were rescued by expression of
91                                  Obesity and craniofacial abnormalities, which have been reported in
92 nt with neonatal diabetes, macroglossia, and craniofacial abnormalities, with partial paternal unipar